medium chain acyl-CoA dehydrogenase deficiency
Findings
No curated finding names medium chain acyl-CoA dehydrogenase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.
Definition from the Mondo Disease Ontology (MONDO:0008721), read 2026-09-29. CC BY 4.0.
Features
39 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Elevated urinary 7-hydroxyoctanoic acid levelHPOHP:6000605
- 2 of 2 reported patients
- Reduced tissue medium-chain acyl-CoA dehydrogenase activityHPOHP:6000356
- 3 of 3 reported patients
- Decreased liver functionHPOHP:0001410
- Frequent (30% to 79% of cases)
- Decreased plasma total carnitineHPOHP:0011936
- Frequent (30% to 79% of cases)
- Diminished deep tendon reflexHPOHP:0001315
- Frequent (30% to 79% of cases)
- Elevated urinary dicarboxylic acid levelHPOHP:0003215
- Frequent (30% to 79% of cases)
Show the remaining 27
- Proximal muscle weaknessHPOHP:0003701
- Frequent (30% to 79% of cases)
- VomitingHPOHP:0002013
- Frequent (30% to 79% of cases)
- Abnormal circulating lactate dehydrogenase concentrationHPOHP:0045040
- Occasional (5% to 29% of cases)
- ArrhythmiaHPOHP:0011675
- Occasional (5% to 29% of cases)
- AtaxiaHPOHP:0001251
- Occasional (5% to 29% of cases)
- Bilateral tonic-clonic seizureHPOHP:0002069
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ACADMHGNC:89
- Definitive · ClinGen · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · Natera · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
10 names
Resolves to: medium chain acyl-CoA dehydrogenase deficiency
- Also called
- ACADM deficiencyAcyl-CoA dehydrogenase, medium chain, deficiency ofacyl-CoA dehydrogenase, medium-chain deficiencyCarnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiencyMCADMCAD deficiencyMCADDmedium chain acyl-coenzyme A dehydrogenase deficiencymedium-chain acyl-CoA dehydrogenase deficiencymedium-chain acyl-Coenzyme A dehydrogenase deficiency